UniProtKB/Swiss-Prot Q9BX63: Variant p.Arg173Cys

Fanconi anemia group J protein
Gene: BRIP1
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Variant information Variant position:

173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Cysteine (C) at position 173 (R173C, p.Arg173Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs4988345 [ dbSNP | Ensembl ]

Sequence information Variant position:

173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1249 The length of the canonical sequence.
Location on the sequence:

DFQVEKKRIRPLETTQQIRK R HCFGTEVHNLDAKVDSGKTV The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DFQVEKKRIRPLETTQ-QIRKRHCFGTEVHNLDAKVDSG-----------KTV

Mouse                         DFQVEKKRIRPLETTQ-QIRKRHCLEKDVHHVDARLASE--

Chicken                       DFQVERKRIRPLETEQ-QVRKRHCFSKEVQLVDALEVYN--

Xenopus laevis                DFQTDRKRIRQSHDEQLQARKRRCYEKGVQFIDDDDDDDRD

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 1249	Fanconi anemia group J protein
Domain	11 – 442	Helicase ATP-binding
Motif	158 – 175	Nuclear localization signal

Literature citations
No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22.
Luo L.; Lei H.; Du Q.; von Wachenfeldt A.; Kockum I.; Luthman H.; Vorechovsky I.; Lindblom A.;
Int. J. Cancer 98:638-639(2002)
Cited for: VARIANTS CYS-173 AND PRO-919; Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.
Rutter J.L.; Smith A.M.; Davila M.R.; Sigurdson A.J.; Giusti R.M.; Pineda M.A.; Doody M.M.; Tucker M.A.; Greene M.H.; Zhang J.; Struewing J.P.;
Hum. Mutat. 22:121-128(2003)
Cited for: VARIANTS CYS-173; ILE-193; PRO-195; TRP-419; VAL-531; LEU-540; TYR-832; PRO-919 AND GLY-935;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.